| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8311540 | Clinica Chimica Acta | 2014 | 5 Pages |
Abstract
Conventional diagnostic methods for CDG are hindered by the novel transferrin E592A. Neuraminidase treatment followed by IEF and ESI-TOF MS can identify the mutation. The mutation appears to be functionally normal.
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Biochemistry
Authors
Julien H. Park, Andrea Zühlsdorf, Yoshinao Wada, Claudia Roll, Stephan Rust, Ingrid Du Chesne, Marianne Grüneberg, Janine Reunert, Thorsten Marquardt,